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- W4236954356 abstract "Abstract Background: The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred for molecular diagnosis over a 20-year period. Methods: This is a retrospective study of the a-globin genotypes obtained in the Hemoglobin Research Laboratory of the Department of Pediatrics, Kuwait University from 1994 to 2015. Genotyping was performed by a combination of PCR, allele-specific oligonucleotide hybridization and reverse dot blot hybridization (Vienna Lab Strip Assay). Results: Four hundred samples were characterized and analyzed from individuals aged <1 month to 80 years, with a median of 6 years from 283 unrelated families. Most (90.8%) were Kuwaiti nationals. The commonest genotype was homozygosity for the polyadenylation-1 mutation (α PA-1 α/α PA-1 α) in 33.3% of the samples, followed by heterozygosity (αα/α PA-1 α) for the same mutation in 32.3%. PA-1 was therefore the most frequent allele (0.59). The frequency of the α 0 (-- MED ) allele was 0.017. Rare alleles that were found in very low frequencies included α 0 (-- FIL ) in a Filipino child, Hb Constant Spring, Hb Adana, and Hb Icaria. Conclusion : There is a wide variety of alpha thalassemia alleles among Kuwaitis, but nondeletional PA-1 is by far the most common cause of the moderate to severe HbH (β4 tetramer) disease phenotype. The α 0 (– MED ) allele is also encountered, which has implications for premarital counseling, especially for the possibility of having babies with alpha thalassemia major (Barts hydrops fetalis)." @default.
- W4236954356 created "2022-05-12" @default.
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- W4236954356 date "2020-08-13" @default.
- W4236954356 modified "2023-09-28" @default.
- W4236954356 title "Alpha Thalassemia Genotypes in Kuwait" @default.
- W4236954356 doi "https://doi.org/10.21203/rs.2.22547/v5" @default.
- W4236954356 hasPublicationYear "2020" @default.
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